By Monica Lefton, SWHR Communications Manager.
Each cell in the human body contains chromosomes of genetic material coded in DNA (deoxyribonucleic acid). Genetic screening is a tool used to look for specific sections of a person’s DNA sequence to identify clinically significant variations that are associated with certain genetic conditions. Noninvasive prenatal screening (NIPS) is a type of screening that is used to assess the risk of chromosomal aneuploidy—an irregular number of chromosomes—in the fetus. NIPS can be performed as early as tens weeks into a pregnancy and is considered noninvasive due to its use of a simple blood draw.
To help pregnant individuals navigate conversations with health care professionals about their prenatal screening options, the Society for Women’s Health Research (SWHR) developed the Noninvasive Prenatal Screening Resource Guide for Women. Sections of the guide include:
- Understanding Genetic Screening and NIPS
- Genetic Conditions Screened by NIPS
- Navigating the NIPS Process
- Talking to Your Health Care Providers
- Genetic Screening Key Terms & Resources
- NIPS Patient Checklist
Download The NIPS Resource Guide
While the screening method itself is simple, NIPS should only be done after an individual is educated on the steps and gives their informed consent to proceed. NIPS typically screens for trisomy 21, which causes Down syndrome; trisomy 18, which causes Edwards syndrome; and trisomy 13, which causes Patau syndrome (See the Genetic Conditions Screened by NIPS section of the resource guide for more information on these conditions). NIPS may screen for other conditions (e.g., Turner syndrome, Klienfelter syndrome, or conditions related to chromosomal microdeletions), but the evidence and accuracy of using NIPS for these is limited and should be discussed with a provider. Conversations about NIPS may take place with an obstetric health care provider, genetic counselor, or geneticist.
Screening is not the same as diagnostic testing. Genetic screening results, including NIPS , cannot provide a definitive diagnosis, but instead provide information about the risk of certain genetic conditions. Screening results should never be interpreted as a concrete determination of your or your baby’s health, and follow-up diagnostic tests may be necessary. Results can, however, be helpful to inform conversations with your health care provider and make decisions about managing maternal and infant health.
Genetic screening is not required during a pregnancy, but increasing education and awareness of its uses across pregnant individuals and their care providers is an important step to ensuring those who can benefit from screening have the understanding and access to do so.
This resource guide is a part of SWHR’s Noninvasive Prenatal Screening Program, launched in 2021 to address barriers to access and reduce health disparities related to preconception and prenatal genetic screening for individuals who are pregnant or planning to become pregnant. SWHR has also published a genetic screening roadmap for clinicians and genetic screening poster for providers and patients, as part of the program.
SWHR’s Noninvasive Prenatal Screening Program is supported by an educational sponsorship from Illumina, Inc. SWHR maintains editorial control and independence over educational content.